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Select item 107590901.

Clinical significance of exostosin 1 in confirmed and suspected lupus membranous nephropathy

Tian Ye, Mengya Jiang, Xueyan Zeng, Dan Zong, Yuanyuan Du, Xiaohong Li, Biao Huang, Xuanli Tang

Lupus Sci Med. 2023; 10(2): e001051. Published online 2023 Dec 28. doi: 10.1136/lupus-2023-001051

PMCID:: PMC10759090

Abstract Article PDF–3.0M

Select item 100494862.

Exostosin 1 Knockdown Induces Chemoresistance in MV3 Melanoma Cells by Upregulating JNK and MEK/ERK Signaling

Vladlena Pfeifer, Heiko Weber, Yuanyuan Wang, Martin Schlesinger, Christian Gorzelanny, Gerd Bendas

Int J Mol Sci. 2023 Mar; 24(6): 5452. Published online 2023 Mar 13. doi: 10.3390/ijms24065452

PMCID:: PMC10049486

Abstract Article PDF–5.3M

Select item 98638733.

Haploinsufficiency of EXT1 and Heparan Sulphate Deficiency Associated with Hereditary Multiple Exostoses in a Pakistani Family

Muhammad Ajmal, Hafsah Muhammad, Muhammad Nasir, Muhammad Shoaib, Salman Akbar Malik, Irfan Ullah

Medicina (Kaunas) 2023 Jan; 59(1): 100. Published online 2022 Dec 31. doi: 10.3390/medicina59010100

PMCID:: PMC9863873

Abstract Article PDF–2.0M

Select item 89229594.

Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family

Jianwei Li, Zhiqiang Wang, Yaxin Han, Chengfang Jin, Dalin Cheng, Yong‐An Zhou, Junping Zhen

Mol Genet Genomic Med. 2022 Mar; 10(3): e1878. Published online 2022 Feb 1. doi: 10.1002/mgg3.1878

PMCID:: PMC8922959

Abstract Article PDF–1.2M

Select item 83675845.

Mutational Analysis of EXT1in a Chinese Family Affected by Hereditary Multiple Osteochondroma

Guangzhi Yuan, Qiang Su, Wenjun Liao, Wei Hou, Linke Huang, Peng Wang, Huayu Wu

Biomed Res Int. 2021; 2021: 8888948. Published online 2021 Aug 6. doi: 10.1155/2021/8888948

PMCID:: PMC8367584

Abstract Article PDF–1.5M

Select item 79339296.

EXT1 methylation promotes proliferation and migration and predicts the clinical outcome of non‐small cell lung carcinoma via WNT signalling pathway

Wencui Kong, Ying Chen, Zhongquan Zhao, Lei Zhang, Xiandong Lin, Xingguang Luo, Shuiliang Wang, Zhengbo Song, Xiangwu Lin, Guoxiang Lai, Zongyang Yu

J Cell Mol Med. 2021 Mar; 25(5): 2609–2620. Published online 2021 Feb 9. doi: 10.1111/jcmm.16277

PMCID:: PMC7933929

Abstract Article PDF–1.5M

Select item 63650387.

A novel splice mutation induces exon skipping of the EXT1 gene in patients with hereditary multiple exostoses

Xiaoyan Guo, Mingrui Lin, Wei Yan, Wenxu Chen, Guolin Hong

Int J Oncol. 2019 Mar; 54(3): 859–868. Published online 2019 Jan 16. doi: 10.3892/ijo.2019.4688

PMCID:: PMC6365038

Abstract Article PDF–1.2M

Select item 53648478.

Identification of a novel mutation in the EXT1 gene from a patient with multiple osteochondromas by exome sequencing

Guolin Hong, Xiaoyan Guo, Wei Yan, Qianqian Li, Hailing Zhao, Ping Ma, Xiao Hu

Mol Med Rep. 2017 Feb; 15(2): 657–664. Published online 2016 Dec 29. doi: 10.3892/mmr.2016.6086

PMCID:: PMC5364847

Abstract Article PDF–919K

Select item 37570029.

Exome Sequencing and Functional Analysis Identifies a Novel Mutation in EXT1 Gene That Causes Multiple Osteochondromas

Feng Zhang, Jinlong Liang, Xiong Guo, Yingang Zhang, Yan Wen, Qiang Li, Zengtie Zhang, Weijuan Ma, Lanlan Dai, Xuanzhu Liu, Ling Yang, Jun Wang

PLoS One. 2013; 8(8): e72316. Published online 2013 Aug 29. doi: 10.1371/journal.pone.0072316

PMCID:: PMC3757002

Abstract Article PDF–1.0M

Select item 168223110.

Genetic heterogeneity in families with hereditary multiple exostoses

April Cook, Wendy Raskind, Susan Halloran Blanton, Richard M. Pauli, Ronald G. Gregg, Claire A. Francomano, Eric Puffenberger, Ernest U. Conrad, Gregory Schmale, Gerard Schellenberg, Ellen Wijsman, Jacqueline T. Hecht, Dan Wells, Michael J. Wagner

Am J Hum Genet. 1993 Jul; 53(1): 71–79.

PMCID:: PMC1682231

Summary Page Browse PDF–1.0M

Select item 137797511.

EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas.

J V Bovée, A M Cleton-Jansen, W Wuyts, G Caethoven, A H Taminiau, E Bakker, W Van Hul, C J Cornelisse, P C Hogendoorn

Am J Hum Genet. 1999 Sep; 65(3): 689–698. doi: 10.1086/302532

PMCID:: PMC1377975

Summary PDF–769K

Select item 101716912.

Multiple exostoses in a patient with t(8;11)(q24.11;p15.5).

R F Ogle, P Dalzell, G Turner, D Wass, M Y Yip

J Med Genet. 1991 Dec; 28(12): 881–883. doi: 10.1136/jmg.28.12.881

PMCID:: PMC1017169

Summary Page Browse PDF–514K

Select item 20941013.

The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins

Gillian Duncan, Craig McCormick, Frank Tufaro

J Clin Invest. 2001 Aug 15; 108(4): 511–516. doi: 10.1172/JCI13737

PMCID:: PMC209410

Article PDF–788K

Select item 1112357114.

Exostoisns (EXT1/2) in Head and Neck Cancers: An In Silico Analysis and Clinical Correlates

Yiping Wang, Yan Huang, Houwei Zhu, Zhenzhen Guo, Jun Cheng, Churen Zhang, Ming Zhong

Int Dent J. 2024 Jun; 74(3): 446–453. Published online 2023 Nov 21. doi: 10.1016/j.identj.2023.10.017

PMCID:: PMC11123571

Abstract Article PDF–2.0M

Select item 1080189415.

The exostosin glycosyltransferase 1/STAT3 axis is a driver of breast cancer aggressiveness

Balakrishnan Solaimuthu, Anees Khatib, Mayur Tanna, Abdelrahman Karmi, Arata Hayashi, Areej Abu Rmaileh, Michal Lichtenstein, Suranjana Takoe, Mohit Kumar Jolly, Yoav David Shaul

Proc Natl Acad Sci U S A. 2024 Jan 16; 121(3): e2316733121. Published online 2024 Jan 12. doi: 10.1073/pnas.2316733121

PMCID:: PMC10801894

Abstract Article PDF–3.5M

Select item 1016000616.

Structural basis for heparan sulfate co-polymerase action by the EXT1–2 complex

Hua Li, Digantkumar Chapla, Robert A. Amos, Annapoorani Ramiah, Kelley W. Moremen, Huilin Li

Nat Chem Biol. Author manuscript; available in PMC 2023 May 5.

Published in final edited form as: Nat Chem Biol. 2023 May; 19(5): 565–574. Published online 2023 Jan 2. doi: 10.1038/s41589-022-01220-2

PMCID:: PMC10160006

Abstract Article PDF–6.1M

Select item 967575417.

Structure of the human heparan sulfate polymerase complex EXT1-EXT2

Francisco Leisico, Juneina Omeiri, Christine Le Narvor, Joël Beaudouin, Michael Hons, Daphna Fenel, Guy Schoehn, Yohann Couté, David Bonnaffé, Rabia Sadir, Hugues Lortat-Jacob, Rebekka Wild

Nat Commun. 2022; 13: 7110. Published online 2022 Nov 19. doi: 10.1038/s41467-022-34882-6

PMCID:: PMC9675754

Abstract Article PDF–2.4M

Select item 792017718.

In Patients with Membranous Lupus Nephritis, Exostosin-Positivity and Exostosin-Negativity Represent Two Different Phenotypes

Aishwarya Ravindran, Marta Casal Moura, Fernando C. Fervenza, Samih H. Nasr, Mariam P. Alexander, Mary E. Fidler, Loren P. Herrera Hernandez, Pingchuan Zhang, Joseph P. Grande, Lynn D. Cornell, Lou Ann Gross, Vivian Negron, Grace E. Jenson, Benjamin J. Madden, M. Cristine Charlesworth, Sanjeev Sethi

J Am Soc Nephrol. 2021 Mar; 32(3): 695–706. Published online 2021 Jan 21. doi: 10.1681/ASN.2020081181

PMCID:: PMC7920177

Abstract Article

Select item 790591019.

Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses

Zayed Al-Zayed, Roua A. Al-Rijjal, Lamya Al-Ghofaili, Huda A. BinEssa, Rajeev Pant, Anwar Alrabiah, Thamer Al-Hussainan, Minjing Zou, Brian F. Meyer, Yufei Shi

Orphanet J Rare Dis. 2021; 16: 100. Published online 2021 Feb 25. doi: 10.1186/s13023-021-01738-z